Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values CCDC27 148870 broad.mit.edu 37 1 3684010 3684010 + Splice_Site SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:3684010G>A uc001akv.2 + 10 1824 c.1743_splice c.e10+1 p.R581_splice NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CCAGTCCAGGGTATGCCCAGC 0.647 CASZ1 54897 broad.mit.edu 37 1 10702922 10702922 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:10702922C>T uc001aro.2 - 20 4476 c.4156G>A c.(4156-4158)GCG>ACG p.A1386T NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TCACCTGCCGCGGTGCTCTCG 0.687 HSPG2 3339 broad.mit.edu 37 1 22170742 22170742 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:22170742C>G uc001bfj.2 - 65 8555 c.8515G>C c.(8515-8517)GCA>CCA p.A2839P HSPG2_uc009vqd.2_Missense_Mutation_p.A2840P NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2839 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGCCCTTCTGCCACTCGGGAG 0.682 GRIK3 2899 broad.mit.edu 37 1 37282846 37282846 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:37282846G>A uc001caz.2 - 13 2041 c.1906C>T c.(1906-1908)CGC>TGC p.R636C GRIK3_uc001cba.1_Missense_Mutation_p.R636C NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 636 Cytoplasmic (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCAATGATGCGTGTGGACAGG 0.547 PIK3R3 8503 broad.mit.edu 37 1 46509434 46509434 + Missense_Mutation SNP G T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:46509434G>T uc001cpb.3 - 10 2053 c.1297C>A c.(1297-1299)CAG>AAG p.Q433K PIK3R3_uc009vyb.2_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.2_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.3_Missense_Mutation_p.Q433K|PIK3R3_uc010olw.1_Missense_Mutation_p.Q479K|PIK3R3_uc010olv.1_Missense_Mutation_p.Q223K NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 433 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) GATGTCTGCTGGTAATGGAGC 0.532 PARS2 25973 broad.mit.edu 37 1 55224003 55224003 + Missense_Mutation SNP A T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:55224003A>T uc001cxy.2 - 2 915 c.832T>A c.(832-834)TTC>ATC p.F278I NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase (mitochondrial)(putative) 278 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity ovary(2) 2 L-Proline(DB00172) TTGGCTGAGAAGCTGCAGCGG 0.562 LRRIQ3 127255 broad.mit.edu 37 1 74507037 74507037 + Silent SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:74507037A>G uc001dfy.3 - 7 1770 c.1578T>C c.(1576-1578)ACT>ACC p.T526T LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 526 ovary(2) 2 TGGTCAAAAGAGTGCGCTCAT 0.358 SF3B4 10262 broad.mit.edu 37 1 149898406 149898406 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:149898406C>G uc001etj.1 - 3 619 c.568G>C c.(568-570)GCA>CCA p.A190P SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.A190P|SF3B4_uc009wll.1_Missense_Mutation_p.A190P NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 190 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CGTTCGGCTGCTGAGCCATGG 0.562 FMO3 2328 broad.mit.edu 37 1 171079944 171079944 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:171079944G>A uc001ghi.2 + 6 744 c.633G>A c.(631-633)ATG>ATA p.M211I FMO3_uc001ghh.2_Missense_Mutation_p.M211I|FMO3_uc010pmb.1_Missense_Mutation_p.M191I|FMO3_uc010pmc.1_Missense_Mutation_p.M148I NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 211 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTAAGGTCATGATCAGTTCCA 0.338 ABL2 27 broad.mit.edu 37 1 179086548 179086548 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:179086548C>T uc001gmj.3 - 8 1614 c.1327G>A c.(1327-1329)GCT>ACT p.A443T ABL2_uc010pnf.1_Missense_Mutation_p.A443T|ABL2_uc010png.1_Missense_Mutation_p.A422T|ABL2_uc010pnh.1_Missense_Mutation_p.A422T|ABL2_uc009wxe.2_Missense_Mutation_p.A422T|ABL2_uc001gmg.3_Missense_Mutation_p.A428T|ABL2_uc001gmi.3_Missense_Mutation_p.A428T|ABL2_uc001gmh.3_Missense_Mutation_p.A407T|ABL2_uc010pne.1_Missense_Mutation_p.A407T|ABL2_uc009wxf.1_Missense_Mutation_p.A428T|ABL2_uc001gmk.2_Missense_Mutation_p.A407T NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 443 Protein kinase.|Kinase activation loop (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTGGCTCCAGCATGAGCAGTA 0.443 T ETV6 AML PTPRC 5788 broad.mit.edu 37 1 198685877 198685877 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:198685877C>T uc001gur.1 + 13 1532 c.1352C>T c.(1351-1353)ACG>ATG p.T451M PTPRC_uc001gus.1_Missense_Mutation_p.T403M|PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 451 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 AAACCTTATACGAAATATGTT 0.313 OPTC 26254 broad.mit.edu 37 1 203466194 203466194 + Missense_Mutation SNP G C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:203466194G>C uc001gzu.1 + 3 437 c.321G>C c.(319-321)ATG>ATC p.M107I NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 107 Ser/Thr-rich. proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) ACCCCACGATGACCAGACCTA 0.562 OBSCN 84033 broad.mit.edu 37 1 228404990 228404990 + Splice_Site SNP G T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:228404990G>T uc009xez.1 + 8 2697 c.2653_splice c.e8+1 p.E885_splice OBSCN_uc001hsn.2_Splice_Site_p.E885_splice NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CGCGTCTCTGGTGAGCACGCT 0.652 CHML 1122 broad.mit.edu 37 1 241797601 241797601 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:241797601G>A uc001hzd.2 - 1 1632 c.1468C>T c.(1468-1470)CGG>TGG p.R490W OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 490 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCTGTGACCCGTACAGCACAA 0.418 OR2G6 391211 broad.mit.edu 37 1 248685648 248685648 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr1:248685648G>A uc001ien.1 + 1 701 c.701G>A c.(700-702)CGC>CAC p.R234H NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTGCGGGCCGCCAAAAGGCC 0.473 IDI2 91734 broad.mit.edu 37 10 1065753 1065753 + Missense_Mutation SNP A T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr10:1065753A>T uc001ifv.1 - 5 453 c.388T>A c.(388-390)TTC>ATC p.F130I C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank NM_033261 NP_150286 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 130 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) ATTGTCATGAACACAATGTCC 0.373 SYT15 83849 broad.mit.edu 37 10 46962073 46962073 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr10:46962073A>G uc001jea.2 - 8 1316 c.1163T>C c.(1162-1164)ATG>ACG p.M388T SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Missense_Mutation_p.M266T|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 388 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 GCGGGTGTACATGTAGGGGCC 0.672 JMJD1C 221037 broad.mit.edu 37 10 64950737 64950737 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr10:64950737G>A uc001jmn.2 - 17 6508 c.6208C>T c.(6208-6210)CTG>TTG p.L2070L JMJD1C_uc001jml.2_Silent_p.L1833L|JMJD1C_uc001jmm.2_Silent_p.L1782L|JMJD1C_uc010qiq.1_Silent_p.L1888L|JMJD1C_uc009xpi.2_Silent_p.L1888L|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2070 LXXLL motif. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GTTGTAGTCAGCAAATCCCGT 0.463 CALHM2 51063 broad.mit.edu 37 10 105207008 105207008 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr10:105207008C>G uc001kwz.2 - 3 1259 c.873G>C c.(871-873)CAG>CAC p.Q291H CALHM2_uc001kxa.2_Missense_Mutation_p.Q291H|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Missense_Mutation_p.Q291H NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 291 integral to membrane skin(1) 1 GTGGGAGGCCCTGGTTCTCAC 0.627 MUC2 4583 broad.mit.edu 37 11 1093681 1093681 + Missense_Mutation SNP G C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:1093681G>C uc001lsx.1 + 32 12601 c.12574G>C c.(12574-12576)GGC>CGC p.G4192R NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4192 GTQ -> TGS (in Ref. 4). inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGGAAGCACGGGGCCCCCCAC 0.617 CHRNA10 57053 broad.mit.edu 37 11 3688949 3688949 + Silent SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:3688949C>T uc001lyf.2 - 4 480 c.408G>A c.(406-408)CTG>CTA p.L136L CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 136 Extracellular (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CATCGTGGCGCAGGACCACGT 0.731 QSER1 79832 broad.mit.edu 37 11 32979551 32979551 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:32979551C>T uc001mty.2 + 8 4768 c.4501C>T c.(4501-4503)CGG>TGG p.R1501W QSER1_uc001mtz.1_Missense_Mutation_p.R1262W|QSER1_uc001mua.2_Missense_Mutation_p.R1006W NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1501 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) ACCAAAGAAACGGAAAAAATG 0.413 AGBL2 79841 broad.mit.edu 37 11 47726094 47726094 + Splice_Site SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:47726094C>G uc001ngg.2 - 6 686 c.586_splice c.e6+1 p.E196_splice AGBL2_uc010rhq.1_Splice_Site_p.E158_splice|AGBL2_uc001ngh.1_Splice_Site_p.E140_splice NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 AGTCATATTACCAATATGATG 0.318 EML3 256364 broad.mit.edu 37 11 62378668 62378668 + Nonsense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:62378668C>A uc001ntu.1 - 3 651 c.343G>T c.(343-345)GAG>TAG p.E115* EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc010rly.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.2_5'Flank NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 115 cytoplasm|microtubule protein binding ovary(1) 1 CCGCTAGGCTCTTCGCTGGCC 0.697 CCDC87 55231 broad.mit.edu 37 11 66358101 66358101 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:66358101C>T uc001oiq.3 - 1 2454 c.2386G>A c.(2386-2388)GAG>AAG p.E796K CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 796 ovary(1)|skin(1) 2 ATCACTGGCTCGCCAAAGATT 0.532 FAT3 120114 broad.mit.edu 37 11 92535042 92535042 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:92535042G>A uc001pdj.3 + 9 8880 c.8863G>A c.(8863-8865)GAC>AAC p.D2955N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2955 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGACACATCCGACGTTAATCG 0.522 TCGA Ovarian(4;0.039) HEPHL1 341208 broad.mit.edu 37 11 93839268 93839268 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:93839268A>G uc001pep.2 + 17 3174 c.3017A>G c.(3016-3018)CAT>CGT p.H1006R uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1006 Extracellular (Potential).|Plastocyanin-like 6. Copper 1; type 2 (By similarity). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CATACCATCCATTATCATGCT 0.353 RNF26 79102 broad.mit.edu 37 11 119206267 119206267 + Silent SNP T A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr11:119206267T>A uc001pwh.2 + 1 1031 c.435T>A c.(433-435)GCT>GCA p.A145A NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 145 Leu-rich. zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GCCTGGTGGCTTATGTGATCA 0.592 KIAA0528 9847 broad.mit.edu 37 12 22602814 22602815 + Frame_Shift_Del DEL AA - - TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr12:22602814_22602815delAA uc001rfq.2 - 25 3110_3111 c.2882_2883delTT c.(2881-2883)CTTfs p.L961fs KIAA0528_uc010sir.1_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc010sit.1_Frame_Shift_Del_p.L1014fs|KIAA0528_uc010siu.1_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.2_Frame_Shift_Del_p.L1003fs NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 961 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TTACATTTATAAGACACTGTGC 0.411 C12orf45 121053 broad.mit.edu 37 12 105380235 105380235 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr12:105380235C>G uc001tlb.2 + 1 138 c.105C>G c.(103-105)GAC>GAG p.D35E NM_152318 NP_689531 Q8N5I9 CL045_HUMAN hypothetical protein LOC121053 35 0 CGGGAAGCGACGGCCGCGGAG 0.706 HVCN1 84329 broad.mit.edu 37 12 111099056 111099056 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr12:111099056G>A uc001trs.1 - 4 384 c.219C>T c.(217-219)GAC>GAT p.D73D HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 73 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 CAGGGGCAACGTCAGGGGCTG 0.527 RB1 5925 broad.mit.edu 37 13 48955550 48955550 + Nonsense_Mutation SNP C T T rs121913304 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr13:48955550C>T uc001vcb.2 + 17 1832 c.1666C>T c.(1666-1668)CGA>TGA p.R556* NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 556 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7)|p.R556*(5) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGTGAACATCGAATCATGGA 0.333 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) OLFM4 10562 broad.mit.edu 37 13 53624151 53624151 + Missense_Mutation SNP G C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr13:53624151G>C uc001vhl.2 + 5 778 c.778G>C c.(778-780)GTT>CTT p.V260L OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 260 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ACCGTCTGTGGTTCAGCTCAA 0.448 DCT 1638 broad.mit.edu 37 13 95121065 95121065 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr13:95121065G>A uc001vlv.3 - 2 957 c.530C>T c.(529-531)GCC>GTC p.A177V DCT_uc010afh.2_Missense_Mutation_p.A177V NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 177 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) ACTGCAGTTGGCAAACTGCGG 0.458 AKAP6 9472 broad.mit.edu 37 14 33014783 33014783 + Missense_Mutation SNP G T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr14:33014783G>T uc001wrq.2 + 4 1094 c.924G>T c.(922-924)GAG>GAT p.E308D AKAP6_uc010aml.2_Missense_Mutation_p.E305D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 308 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTGGATGTGAGGAAGACAATG 0.488 SERPINA6 866 broad.mit.edu 37 14 94776220 94776220 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr14:94776220G>A uc001ycv.2 - 3 841 c.737C>T c.(736-738)GCG>GTG p.A246V SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 246 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GGGGAGCTCCGAGTCATGAAG 0.542 SERPINA9 327657 broad.mit.edu 37 14 94935885 94935885 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr14:94935885A>G uc001ydf.2 - 2 508 c.347T>C c.(346-348)CTG>CCG p.L116P SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 98 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GTTGAAGCCCAGGCCCTGGAG 0.567 PCSK6 5046 broad.mit.edu 37 15 101933603 101933603 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr15:101933603G>A uc002bwy.2 - 9 1337 c.1023C>T c.(1021-1023)TTC>TTT p.F341F PCSK6_uc010bpd.2_Silent_p.F211F|PCSK6_uc010bpe.2_Silent_p.F341F|PCSK6_uc002bxa.2_Silent_p.F341F|PCSK6_uc002bxb.2_Silent_p.F341F|PCSK6_uc002bxc.1_Silent_p.F341F|PCSK6_uc002bxd.1_Silent_p.F341F|PCSK6_uc002bxe.2_Silent_p.F341F|PCSK6_uc002bxg.1_Silent_p.F341F NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 341 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATGCCCAGACGAAAATGGAGC 0.627 CREBBP 1387 broad.mit.edu 37 16 3820625 3820625 + Silent SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr16:3820625A>G uc002cvv.2 - 14 3030 c.2826T>C c.(2824-2826)CCT>CCC p.P942P CREBBP_uc002cvw.2_Silent_p.P904P NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 942 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCGATGACTGAGGGGTAGCCA 0.627 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome ITGAD 3681 broad.mit.edu 37 16 31422196 31422196 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr16:31422196G>A uc002ebv.1 + 12 1402 c.1353G>A c.(1351-1353)ACG>ACA p.T451T ITGAD_uc010cap.1_Silent_p.T451T NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 451 Extracellular (Potential).|FG-GAP 5. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TCACAGGGACGCAGGTTGGGC 0.657 COQ9 57017 broad.mit.edu 37 16 57492187 57492187 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr16:57492187C>G uc002elq.2 + 6 652 c.636C>G c.(634-636)AAC>AAG p.N212K COQ9_uc002elr.2_Missense_Mutation_p.N177K|COQ9_uc002els.2_Missense_Mutation_p.N5K NM_020312 NP_064708 O75208 COQ9_HUMAN coenzyme Q9 homolog precursor 212 ubiquinone biosynthetic process mitochondrion breast(1) 1 TCCCTCACAACATCCCGTCCA 0.562 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr17:7577568C>A uc002gim.2 - 7 907 c.713G>T c.(712-714)TGT>TTT p.C238F TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 238 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAACTGTTACACATGTAGTT 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TP53 7157 broad.mit.edu 37 17 7578265 7578265 + Missense_Mutation SNP A T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr17:7578265A>T uc002gim.2 - 6 778 c.584T>A c.(583-585)ATC>AAC p.I195N TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.2_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.1_Missense_Mutation_p.I156N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 195 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCCACTCGGATAAGATGCTG 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) RAI1 10743 broad.mit.edu 37 17 17697820 17697820 + Missense_Mutation SNP G A A rs147708297 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr17:17697820G>A uc002grm.2 + 3 2027 c.1558G>A c.(1558-1560)GGC>AGC p.G520S RAI1_uc002grn.1_Missense_Mutation_p.G520S NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 520 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CTACCTGAGCGGCTCCGAGGA 0.687 SLC13A2 9058 broad.mit.edu 37 17 26818573 26818573 + Silent SNP C T T rs146824818 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr17:26818573C>T uc002hbh.2 + 5 760 c.693C>T c.(691-693)ATC>ATT p.I231I SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.1_Silent_p.I187I|SLC13A2_uc010wan.1_Silent_p.I280I|SLC13A2_uc010wao.1_Silent_p.I188I|SLC13A2_uc002hbi.2_Silent_p.I160I NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 231 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCGCCAGCATCGGGGGCATCG 0.632 VAT1 10493 broad.mit.edu 37 17 41168349 41168349 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr17:41168349A>G uc002icm.1 - 5 1193 c.1073T>C c.(1072-1074)ATT>ACT p.I358T VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T NM_006373 NP_006364 Q99536 VAT1_HUMAN vesicle amine transport protein 1 358 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) GACTGAGTCAATGTGGGGCTT 0.607 GRIN2C 2905 broad.mit.edu 37 17 72851132 72851132 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr17:72851132C>T uc002jlt.1 - 2 256 c.100G>A c.(100-102)GTG>ATG p.V34M GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.V34M|GRIN2C_uc002jlv.1_Missense_Mutation_p.V34M NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 34 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CTAAACACCACAGCCACCGTC 0.706 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr18:14513764C>T uc010dln.2 - 10 1884 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 477 skin(3) 3 AAGTTGTTTCCGGGTATCATT 0.358 ADAMTS10 81794 broad.mit.edu 37 19 8661249 8661249 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:8661249C>T uc002mkj.1 - 10 1406 c.1132G>A c.(1132-1134)GTC>ATC p.V378I ADAMTS10_uc002mkk.1_Missense_Mutation_p.V10I NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 378 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 TCCTCATTGACGCTGCAGCTT 0.662 MUC16 94025 broad.mit.edu 37 19 9050207 9050207 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:9050207G>A uc002mkp.2 - 5 31628 c.31424C>T c.(31423-31425)ACC>ATC p.T10475I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10477 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCTGTGGTGGTGGTCTCCAT 0.483 RAVER1 125950 broad.mit.edu 37 19 10434234 10434234 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:10434234G>A uc002moa.2 - 4 896 c.816C>T c.(814-816)TGC>TGT p.C272C NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 255 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CATCCTGGCCGCACGCCAGCT 0.667 CYP4F8 11283 broad.mit.edu 37 19 15739191 15739191 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:15739191G>A uc002nbi.2 + 12 1259 c.1195G>A c.(1195-1197)GCC>ACC p.A399T CYP4F8_uc010xoj.1_Missense_Mutation_p.A211T NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 399 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CCCTACATTCGCCCGCGGCTG 0.637 OR10H1 26539 broad.mit.edu 37 19 15918727 15918727 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:15918727C>A uc002nbq.2 - 1 210 c.121G>T c.(121-123)GGC>TGC p.G41C NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCAGGTTGCCCAGCAGCGTG 0.597 EPS15L1 58513 broad.mit.edu 37 19 16515514 16515514 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:16515514A>G uc002ndz.1 - 14 1319 c.1313T>C c.(1312-1314)CTC>CCC p.L438P EPS15L1_uc002ndx.2_Missense_Mutation_p.L438P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 438 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 CTGAGCCTCGAGCTCCTGCAA 0.542 PRX 57716 broad.mit.edu 37 19 40901148 40901148 + Silent SNP T C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:40901148T>C uc002onr.2 - 7 3380 c.3111A>G c.(3109-3111)GAA>GAG p.E1037E PRX_uc002onq.2_Silent_p.E898E|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1037 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGGCACTAGTTCTGCTGCCT 0.627 C19orf54 284325 broad.mit.edu 37 19 41248416 41248416 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:41248416G>A uc002oou.1 - 6 1098 c.978C>T c.(976-978)TAC>TAT p.Y326Y C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 326 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CGGGCACCACGTACACCCGGC 0.662 FOXA3 3171 broad.mit.edu 37 19 46375547 46375547 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:46375547C>T uc002pdr.2 + 2 481 c.284C>T c.(283-285)CCG>CTG p.P95L NM_004497 NP_004488 P55318 FOXA3_HUMAN forkhead box A3 95 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1) 1 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TACGGGGCCCCGGGTCCTGGG 0.682 MYH14 79784 broad.mit.edu 37 19 50713834 50713834 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:50713834G>A uc002prr.1 + 2 259 c.212G>A c.(211-213)CGG>CAG p.R71Q MYH14_uc010enu.1_Missense_Mutation_p.R71Q|MYH14_uc002prq.1_Missense_Mutation_p.R71Q NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 71 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCGGCGCTGCGGGACGAAGGC 0.736 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:53644386T>A uc002qbb.1 - 5 1764 c.1695A>T c.(1693-1695)GGA>GGT p.G565G ZNF347_uc010eql.1_Silent_p.G566G|ZNF347_uc002qbc.1_Silent_p.G566G NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408 BIRC8 112401 broad.mit.edu 37 19 53793037 53793037 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:53793037G>A uc002qbk.2 - 1 1839 c.591C>T c.(589-591)ATC>ATT p.I197I NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 197 RING-type. apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) AAACAACAGCGATATGTCTGT 0.443 LILRB1 10859 broad.mit.edu 37 19 55144009 55144009 + Nonsense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr19:55144009C>A uc002qgj.2 + 7 1096 c.756C>A c.(754-756)TAC>TAA p.Y252* LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.Y252*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010erq.2_Nonsense_Mutation_p.Y252*|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 252 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) ATGCTGGCTACAACAGATTTG 0.587 HNSCC(37;0.09) GDF7 151449 broad.mit.edu 37 2 20870425 20870425 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:20870425G>A uc002rdz.1 + 2 1169 c.593G>A c.(592-594)CGG>CAG p.R198Q NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 preproprotein 198 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTACTCGCGGGCAGCTGAG 0.731 CAPN13 92291 broad.mit.edu 37 2 30986009 30986009 + Missense_Mutation SNP G C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:30986009G>C uc002rnn.2 - 7 889 c.713C>G c.(712-714)GCA>GGA p.A238G CAPN13_uc002rnp.1_Missense_Mutation_p.A238G NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 238 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CATCGCCTGTGCTGTATCTGT 0.522 EHBP1 23301 broad.mit.edu 37 2 63086375 63086375 + Missense_Mutation SNP G C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:63086375G>C uc002sby.2 + 9 1293 c.811G>C c.(811-813)GAT>CAT p.D271H EHBP1_uc010fcp.2_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.2_Missense_Mutation_p.D236H|EHBP1_uc002scb.2_Missense_Mutation_p.D236H NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 271 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AAATCCATTTGATGATCCTGA 0.358 Hereditary_Prostate_Cancer SMYD5 10322 broad.mit.edu 37 2 73449902 73449902 + Missense_Mutation SNP G A A rs116053390 by1000genomes TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:73449902G>A uc002siw.2 + 7 691 c.662G>A c.(661-663)CGG>CAG p.R221Q SMYD5_uc010yre.1_Missense_Mutation_p.R105Q|SMYD5_uc002six.1_RNA NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 221 metal ion binding 0 GAACTTCTGCGGAGACTCTTC 0.592 SEMA4F 10505 broad.mit.edu 37 2 74907015 74907016 + Frame_Shift_Ins INS - G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:74907015_74907016insG uc002sna.1 + 14 2103_2104 c.1992_1993insG c.(1990-1995)GCTGGCfs p.A664fs SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 664_665 Helical; (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CGGGACTGGCTGGCTTCTTCTT 0.619 CLASP1 23332 broad.mit.edu 37 2 122220134 122220134 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:122220134C>T uc002tnc.2 - 10 1303 c.913G>A c.(913-915)GCA>ACA p.A305T CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.A305T|CLASP1_uc010yza.1_Missense_Mutation_p.A305T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.A305T NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 305 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) TCATCAAATGCTTTAATAAAA 0.328 MYO3B 140469 broad.mit.edu 37 2 171358331 171358331 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:171358331A>G uc002ufy.2 + 28 3469 c.3326A>G c.(3325-3327)AAA>AGA p.K1109R MYO3B_uc002ufv.2_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1096R|MYO3B_uc002ufz.2_Intron|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_Intron|MYO3B_uc002ugb.2_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1109 IQ 2. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 AAATTTAAGAAAATAAGCAAC 0.348 DFNB59 494513 broad.mit.edu 37 2 179325759 179325759 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:179325759C>A uc002umi.3 + 7 1173 c.817C>A c.(817-819)CTT>ATT p.L273I DFNB59_uc002umj.3_Missense_Mutation_p.L273I NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 273 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) CTTGGATGATCTTTTTTCTGA 0.348 TTN 7273 broad.mit.edu 37 2 179423224 179423224 + Missense_Mutation SNP T A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:179423224T>A uc010zfg.1 - 276 79482 c.79258A>T c.(79258-79260)AAC>TAC p.N26420Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N20115Y|TTN_uc010zfi.1_Missense_Mutation_p.N20048Y|TTN_uc010zfj.1_Missense_Mutation_p.N19923Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27347 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAACCCAGTTTTTCTGTCCT 0.438 TTN 7273 broad.mit.edu 37 2 179424446 179424446 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:179424446C>A uc010zfg.1 - 275 78933 c.78709G>T c.(78709-78711)GAC>TAC p.D26237Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19932Y|TTN_uc010zfi.1_Missense_Mutation_p.D19865Y|TTN_uc010zfj.1_Missense_Mutation_p.D19740Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27164 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACGAGAGTCTGTGGTATCA 0.433 SGPP2 130367 broad.mit.edu 37 2 223339305 223339305 + Missense_Mutation SNP G A A rs147179845 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:223339305G>A uc010zlo.1 + 2 238 c.238G>A c.(238-240)GTC>ATC p.V80I SGPP2_uc010zlp.1_5'UTR NM_152386 NP_689599 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphotase 2 80 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|skin(1) 2 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) ACAGAAGTACGTCGTGAAGAA 0.363 SP140 11262 broad.mit.edu 37 2 231106159 231106159 + Silent SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:231106159C>T uc002vql.2 + 4 562 c.447C>T c.(445-447)AAC>AAT p.N149N SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.N149N|SP140_uc002vqn.2_Silent_p.N149N|SP140_uc002vqm.2_Silent_p.N149N|SP140_uc010fxl.2_Silent_p.N149N NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 149 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATAATGTAAACGATTTAGAAG 0.373 RBM44 375316 broad.mit.edu 37 2 238726827 238726827 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr2:238726827A>G uc002vxi.3 + 3 1400 c.1268A>G c.(1267-1269)CAG>CGG p.Q423R NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 422 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGAGATAATCAGGCAATAGAA 0.368 C20orf118 140711 broad.mit.edu 37 20 35507541 35507541 + Missense_Mutation SNP G A A rs147682253 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr20:35507541G>A uc002xgg.1 + 3 295 c.287G>A c.(286-288)CGG>CAG p.R96Q NM_080628 NP_542195 A0PJX2 CT118_HUMAN hypothetical protein LOC140711 96 TLD. 0 Myeloproliferative disorder(115;0.00874) CTGTACCGGCGGATGGAGGGC 0.667 NEURL2 140825 broad.mit.edu 37 20 44519558 44519558 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr20:44519558G>A uc002xqg.1 - 1 344 c.73C>T c.(73-75)CGC>TGC p.R25C CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 25 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) CGATGGAAGCGGGTGGGAGGG 0.711 NFATC2 4773 broad.mit.edu 37 20 50140360 50140360 + Silent SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr20:50140360C>T uc002xwd.2 - 2 640 c.420G>A c.(418-420)CCG>CCA p.P140P NFATC2_uc002xwc.2_Silent_p.P140P|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Silent_p.P120P|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Silent_p.P120P NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 140 Trans-activation domain A (TAD-A). B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) CGGCCAGGGGCGGCTGCTCCA 0.721 LAMA5 3911 broad.mit.edu 37 20 60912694 60912694 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr20:60912694G>A uc002ycq.2 - 16 2183 c.2116C>T c.(2116-2118)CGG>TGG p.R706W NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 706 Laminin EGF-like 8. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGTCACACCGCAGCCCCGTC 0.667 APP 351 broad.mit.edu 37 21 27369692 27369692 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr21:27369692G>A uc002ylz.2 - 8 1273 c.1073C>T c.(1072-1074)GCC>GTC p.A358V APP_uc010glk.2_Intron|APP_uc002yma.2_Intron|APP_uc011ach.1_Missense_Mutation_p.A302V|APP_uc002ymb.2_Intron|APP_uc010glj.2_Intron|APP_uc011aci.1_Intron NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 358 Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) AGGATCTCGGGCAAGAGGTTC 0.438 TOP3B 8940 broad.mit.edu 37 22 22317253 22317253 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr22:22317253C>A uc002zvs.2 - 12 1652 c.1217G>T c.(1216-1218)TGG>TTG p.W406L TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_Missense_Mutation_p.W131L|TOP3B_uc010gtl.2_Missense_Mutation_p.W406L|TOP3B_uc002zvt.3_Missense_Mutation_p.W406L NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 406 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) ATAGAGCCGCCACGCGTCACC 0.617 ADRBK2 157 broad.mit.edu 37 22 26086159 26086159 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr22:26086159G>A uc003abx.3 + 12 1108 c.961G>A c.(961-963)GCA>ACA p.A321T ADRBK2_uc010gux.2_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 321 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) TGTTTAGCCAGCAAATATTCT 0.398 OSBP2 23762 broad.mit.edu 37 22 31137264 31137264 + Missense_Mutation SNP T G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr22:31137264T>G uc003aiy.1 + 2 865 c.761T>G c.(760-762)CTC>CGC p.L254R OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 254 PH. lipid transport membrane lipid binding breast(1)|skin(1) 2 AGCTACCACCTCAAGGCCAGC 0.612 MORC2 22880 broad.mit.edu 37 22 31336801 31336801 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr22:31336801C>T uc003aje.1 - 11 2026 c.662G>A c.(661-663)CGT>CAT p.R221H NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 283 Potential. ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 GGTCTTGAAACGGCTTGACGT 0.567 ZFYVE20 64145 broad.mit.edu 37 3 15115967 15115967 + Silent SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:15115967C>A uc003bzm.1 - 14 2291 c.1677G>T c.(1675-1677)CTG>CTT p.L559L ZFYVE20_uc010hek.1_Silent_p.L559L NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 559 Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TGCTGGGCTCCAGCTGAAAAG 0.572 DHX30 22907 broad.mit.edu 37 3 47888187 47888187 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:47888187G>A uc003cru.2 + 11 2051 c.1625G>A c.(1624-1626)CGT>CAT p.R542H DHX30_uc003crt.2_Missense_Mutation_p.R503H|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 542 Helicase ATP-binding. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ATCCTGCTGCGTAAGCTGCAG 0.627 MST1 4485 broad.mit.edu 37 3 49724639 49724639 + Missense_Mutation SNP A G G rs41291704 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:49724639A>G uc003cxg.2 - 5 622 c.550T>C c.(550-552)TAC>CAC p.Y184H MST1_uc011bcs.1_Missense_Mutation_p.Y184H|MST1_uc010hkx.2_Missense_Mutation_p.Y105H|MST1_uc011bct.1_Missense_Mutation_p.Y184H|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 170 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTGTTGTGTAGCACCAAGGA 0.627 NEK4 6787 broad.mit.edu 37 3 52778291 52778291 + Nonsense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:52778291G>A uc003dfq.3 - 11 2047 c.1858C>T c.(1858-1860)CGA>TGA p.R620* NEK4_uc011bej.1_Nonsense_Mutation_p.R531*|NEK4_uc003dfr.2_Nonsense_Mutation_p.R574* NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 620 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TGCTTTAGTCGCCTCCTCTCT 0.413 ACOX2 8309 broad.mit.edu 37 3 58510285 58510285 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:58510285G>A uc003dkl.2 - 11 1569 c.1394C>T c.(1393-1395)ACG>ATG p.T465M NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 465 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) TCTCTGTGGCGTGGAGCCAGG 0.617 C3orf67 200844 broad.mit.edu 37 3 58853638 58853638 + Missense_Mutation SNP G A A rs141916956 byFrequency TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:58853638G>A uc003dkt.1 - 10 1074 c.665C>T c.(664-666)CCG>CTG p.P222L C3orf67_uc003dks.1_Missense_Mutation_p.P37L|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.P37L|C3orf67_uc003dkw.2_Intron NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 222 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) AGGGGGATGCGGATGCATAAT 0.388 ZXDC 79364 broad.mit.edu 37 3 126160628 126160628 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:126160628C>G uc003eiv.2 - 8 2428 c.2374G>C c.(2374-2376)GTC>CTC p.V792L ZXDC_uc010hsh.2_RNA NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 792 Interaction with CIITA. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) TGGACCTGGACGCCCTGCGCC 0.677 TRIM42 287015 broad.mit.edu 37 3 140397352 140397352 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:140397352G>A uc003eto.1 + 1 472 c.281G>A c.(280-282)CGC>CAC p.R94H NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 94 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TATGAGAGCCGCTGCTGCCGC 0.557 CP 1356 broad.mit.edu 37 3 148901264 148901264 + Missense_Mutation SNP A T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:148901264A>T uc003ewy.3 - 13 2667 c.2414T>A c.(2413-2415)CTG>CAG p.L805Q CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.L586Q|CP_uc003ewz.2_Missense_Mutation_p.L805Q NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 805 Plastocyanin-like 5.|F5/8 type A 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TAGAATTCCCAGATGTTCTTC 0.398 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr3:178952072A>G uc003fjk.2 + 21 3284 c.3127A>G c.(3127-3129)ATG>GTG p.M1043V NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043I(31)|p.M1043V(15)|p.M1043T(3) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) DRD5 1816 broad.mit.edu 37 4 9784905 9784905 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:9784905G>A uc003gmb.3 + 1 1648 c.1252G>A c.(1252-1254)GTT>ATT p.V418I NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 418 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCCAACGCCGTTACCCCCGG 0.557 KLB 152831 broad.mit.edu 37 4 39408665 39408665 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:39408665C>A uc003gua.2 + 1 193 c.96C>A c.(94-96)AAC>AAA p.N32K KLB_uc011byj.1_Missense_Mutation_p.N32K NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 32 Extracellular (Potential). carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 CAATGTCCAACGGGGGATTGC 0.453 FRAS1 80144 broad.mit.edu 37 4 79173649 79173649 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:79173649A>G uc003hlb.2 + 5 853 c.413A>G c.(412-414)CAG>CGG p.Q138R FRAS1_uc003hkw.2_Missense_Mutation_p.Q138R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'Flank NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 138 VWFC 2.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TGTGGACACCAGGAGCTGGCA 0.562 CENPE 1062 broad.mit.edu 37 4 104117134 104117134 + Silent SNP T C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:104117134T>C uc003hxb.1 - 4 390 c.300A>G c.(298-300)GAA>GAG p.E100E CENPE_uc003hxc.1_Silent_p.E100E NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 100 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CCAAATGATCTTCTGAACCCA 0.348 PRSS12 8492 broad.mit.edu 37 4 119239641 119239641 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:119239641G>A uc003ica.1 - 5 1089 c.1042C>T c.(1042-1044)CGC>TGC p.R348C NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 348 SRCR 2. membrane scavenger receptor activity skin(1) 1 CCAGTGCAGCGTACTTCATCC 0.478 TLL1 7092 broad.mit.edu 37 4 166910622 166910622 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:166910622G>A uc003irh.1 + 2 906 c.259G>A c.(259-261)GGA>AGA p.G87R TLL1_uc011cjn.1_Missense_Mutation_p.G87R|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 87 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GAACCCCTTTGGAAACCTTGG 0.333 ENPP6 133121 broad.mit.edu 37 4 185018423 185018423 + Silent SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr4:185018423C>G uc003iwc.2 - 7 1234 c.1092G>C c.(1090-1092)CGG>CGC p.R364R NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 364 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GGAAGATGCCCCGCATGTCCA 0.587 PRDM9 56979 broad.mit.edu 37 5 23527861 23527861 + Silent SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:23527861C>T uc003jgo.2 + 11 2846 c.2664C>T c.(2662-2664)TAC>TAT p.Y888Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 888 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAAGCCCTACGTCTGCAGGG 0.527 HNSCC(3;0.000094) FAM170A 340069 broad.mit.edu 37 5 118970068 118970068 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:118970068G>A uc003ksm.2 + 3 835 c.625G>A c.(625-627)GTT>ATT p.V209I FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.V209I|FAM170A_uc003kso.2_Missense_Mutation_p.V162I NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 209 intracellular zinc ion binding skin(1) 1 CTCACCCACCGTTGAGGACAC 0.587 PCDHA7 56141 broad.mit.edu 37 5 140215694 140215694 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:140215694G>A uc003lhq.2 + 1 1726 c.1726G>A c.(1726-1728)GCA>ACA p.A576T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A576T NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 576 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGGTGGCGCAGTGAGAGA 0.662 PCDHA8 56140 broad.mit.edu 37 5 140221979 140221979 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:140221979C>G uc003lhs.2 + 1 1073 c.1073C>G c.(1072-1074)CCT>CGT p.P358R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P358R NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 358 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTATCCTTGCCTGTACGTGAA 0.502 PCDHGA2 56113 broad.mit.edu 37 5 140720522 140720522 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:140720522G>A uc003ljk.1 + 1 2169 c.1984G>A c.(1984-1986)GTG>ATG p.V662M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V662M NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 662 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGCTCACCGTGGCCGTGGC 0.682 PCDHGA2 56113 broad.mit.edu 37 5 140720558 140720558 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:140720558G>A uc003ljk.1 + 1 2205 c.2020G>A c.(2020-2022)GAC>AAC p.D674N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.D674N NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 674 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCTGGCCGACCTGGGCAG 0.687 TBC1D9B 23061 broad.mit.edu 37 5 179318430 179318430 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr5:179318430G>A uc003mlh.2 - 6 1030 c.993C>T c.(991-993)TGC>TGT p.C331C TBC1D9B_uc003mli.2_Silent_p.C331C|TBC1D9B_uc003mlj.2_Silent_p.C331C NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 331 GRAM 2. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCTGGCGAAGCAGATGTAGT 0.592 DSP 1832 broad.mit.edu 37 6 7582878 7582878 + Missense_Mutation SNP T C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:7582878T>C uc003mxp.1 + 24 5662 c.5383T>C c.(5383-5385)TCT>CCT p.S1795P DSP_uc003mxq.1_Missense_Mutation_p.S1196P NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1795 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATTCCAGGCATCTAATAGGAT 0.353 PHACTR1 221692 broad.mit.edu 37 6 13278556 13278556 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:13278556C>G uc010jpc.2 + 12 1836 c.1504C>G c.(1504-1506)CGA>GGA p.R502G PHACTR1_uc003nah.1_Missense_Mutation_p.R502G|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 502 RPEL 4. cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GAGGCTAACCCGAAAGGTAGG 0.507 BAT1 7919 broad.mit.edu 37 6 31508154 31508154 + Silent SNP G C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:31508154G>C uc003ntt.2 - 2 787 c.156C>G c.(154-156)CTC>CTG p.L52L BAT1_uc003nts.2_Silent_p.L52L|BAT1_uc011dnn.1_Nonsense_Mutation_p.S48*|BAT1_uc003ntu.2_Silent_p.L52L|BAT1_uc003ntv.2_Silent_p.L52L|BAT1_uc003ntw.2_Silent_p.L52L|BAT1_uc003ntx.2_Silent_p.L52L|BAT1_uc011dno.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnp.1_Nonsense_Mutation_p.S48*|BAT1_uc011dnq.1_RNA NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 52 Q motif. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 ACTCTGGCTTGAGCAGGAAGT 0.547 SKIV2L 6499 broad.mit.edu 37 6 31933760 31933760 + Silent SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:31933760C>A uc003nyn.1 + 18 2561 c.2172C>A c.(2170-2172)CCC>CCA p.P724P SKIV2L_uc011dou.1_Silent_p.P566P|SKIV2L_uc011dov.1_Silent_p.P531P NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 724 Helicase C-terminal. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GCCGAGTGCCCGAGATGGCAG 0.652 C6orf168 84553 broad.mit.edu 37 6 99729047 99729047 + Missense_Mutation SNP C A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:99729047C>A uc003ppj.3 - 6 1506 c.1223G>T c.(1222-1224)TGC>TTC p.C408F C6orf168_uc003ppi.3_Missense_Mutation_p.C128F NM_032511 NP_115900 Q5TGI0 CF168_HUMAN hypothetical protein LOC84553 408 ovary(2)|central_nervous_system(1) 3 all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198) BRCA - Breast invasive adenocarcinoma(108;0.073) ACGTCACTTGCACTGTTCGTG 0.517 BCLAF1 9774 broad.mit.edu 37 6 136597032 136597032 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:136597032C>T uc003qgx.1 - 5 1884 c.1631G>A c.(1630-1632)CGT>CAT p.R544H BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 544 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GACTTCAGGACGGTGAGAATC 0.433 SYNE1 23345 broad.mit.edu 37 6 152685991 152685991 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr6:152685991C>T uc010kiw.2 - 63 10738 c.10136G>A c.(10135-10137)CGT>CAT p.R3379H SYNE1_uc003qot.3_Missense_Mutation_p.R3386H|SYNE1_uc003qou.3_Missense_Mutation_p.R3379H|SYNE1_uc010kja.1_Missense_Mutation_p.R84H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3379 Spectrin 7.|HAT 6.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTTTTACAACGAATCCCTGC 0.448 HNSCC(10;0.0054) INMT 11185 broad.mit.edu 37 7 30795056 30795056 + Silent SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:30795056G>A uc003tbs.1 + 3 397 c.381G>A c.(379-381)AAG>AAA p.K127K FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.K126K NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 127 cytoplasm amine N-methyltransferase activity 0 GGGAGGAGAAGGAGGAGAAGC 0.637 SEPT7 989 broad.mit.edu 37 7 35872442 35872442 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:35872442C>T uc010kxc.2 + 2 294 c.101C>T c.(100-102)GCC>GTC p.A34V SEPT7_uc011kat.1_Missense_Mutation_p.A33V|SEPT7_uc011kau.1_Intron|SEPT7_uc011kav.1_5'UTR NM_001788 NP_001779 Q16181 SEPT7_HUMAN cell division cycle 10 isoform 1 34 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity 0 GTGGGATTTGCCAATCTCCCA 0.363 NACAD 23148 broad.mit.edu 37 7 45120514 45120514 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:45120514C>G uc003tmt.2 - 6 4512 c.4512G>C c.(4510-4512)AGG>AGC p.R1504S NM_001146334 NP_001139806 O15069 NACAD_HUMAN NAC alpha domain containing 1504 protein transport cytoplasm|nucleus 0 TGCACTCCAGCCTCACCCGGG 0.552 COL1A2 1278 broad.mit.edu 37 7 94034005 94034005 + Missense_Mutation SNP G T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:94034005G>T uc003ung.1 + 8 796 c.325G>T c.(325-327)GGC>TGC p.G109C COL1A2_uc011kib.1_Missense_Mutation_p.G109C|COL1A2_uc010lfh.1_5'Flank NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 109 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTTCTTTTAGGGCCCTCAAGG 0.403 HNSCC(75;0.22) MUC17 140453 broad.mit.edu 37 7 100675953 100675953 + Missense_Mutation SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:100675953A>G uc003uxp.1 + 3 1309 c.1256A>G c.(1255-1257)GAC>GGC p.D419G MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 419 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATTCCTGTTGACTCCAAAACT 0.463 MGAM 8972 broad.mit.edu 37 7 141736731 141736731 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:141736731C>T uc003vwy.2 + 18 2239 c.2185C>T c.(2185-2187)CGT>TGT p.R729C NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 729 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTCTTCTTCCGTGCTCACAG 0.493 TRYX3 136541 broad.mit.edu 37 7 141954883 141954883 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:141954883C>T uc003vxb.2 - 3 748 c.428G>A c.(427-429)TGT>TAT p.C143Y TRYX3_uc003vxc.3_Missense_Mutation_p.C143Y NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 143 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) ACAGATATCACACACATTGTA 0.433 ZNF282 8427 broad.mit.edu 37 7 148921339 148921339 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr7:148921339G>A uc003wfm.2 + 8 1721 c.1616G>A c.(1615-1617)AGC>AAC p.S539N ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.2_Missense_Mutation_p.A216T NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 539 C2H2-type 1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CACCACCGCAGCCACACCAAG 0.682 TEX15 56154 broad.mit.edu 37 8 30694497 30694497 + Silent SNP C T T rs142941425 TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr8:30694497C>T uc003xil.2 - 3 8154 c.8154G>A c.(8152-8154)GCG>GCA p.A2718A NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2718 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GTGGCTCCCCCGCAAAATAAG 0.423 PXDNL 137902 broad.mit.edu 37 8 52387561 52387561 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr8:52387561G>A uc003xqu.3 - 7 766 c.665C>T c.(664-666)GCT>GTT p.A222V NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 222 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGTTACTGAAGCAACTGCACG 0.463 TSNARE1 203062 broad.mit.edu 37 8 143436006 143436006 + Missense_Mutation SNP T C C rs117184426 byFrequency TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr8:143436006T>C uc003ywk.2 - 2 198 c.80A>G c.(79-81)CAG>CGG p.Q27R TSNARE1_uc011lju.1_Missense_Mutation_p.Q27R|TSNARE1_uc003ywj.2_Missense_Mutation_p.Q27R|TSNARE1_uc003ywl.3_Missense_Mutation_p.Q27R NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 27 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACCTAGGGGCTGACAGCCTTG 0.602 SPATC1 375686 broad.mit.edu 37 8 145095019 145095019 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr8:145095019C>G uc011lkw.1 + 2 523 c.421C>G c.(421-423)CTG>GTG p.L141V SPATC1_uc011lkx.1_Missense_Mutation_p.L141V NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 141 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CACCAGCTTCCTGACCAGTCC 0.682 ADAMTSL1 92949 broad.mit.edu 37 9 18777020 18777020 + Silent SNP T C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr9:18777020T>C uc003zne.3 + 19 2920 c.2793T>C c.(2791-2793)TAT>TAC p.Y931Y NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 931 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CCTTCGGCTATCTCAAGATCC 0.662 NOL6 65083 broad.mit.edu 37 9 33467806 33467806 + Silent SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr9:33467806C>T uc003zsz.2 - 12 1586 c.1485G>A c.(1483-1485)CTG>CTA p.L495L SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Silent_p.L495L|NOL6_uc010mjv.2_Silent_p.L492L|NOL6_uc011lob.1_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 495 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CATTGTCCTGCAGCTCTGGCC 0.637 C9orf139 401563 broad.mit.edu 37 9 139929144 139929144 + Missense_Mutation SNP C T T TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr9:139929144C>T uc004ckp.1 + 3 1725 c.211C>T c.(211-213)CGC>TGC p.R71C FUT7_uc004ckq.2_5'Flank NM_207511 NP_997394 Q6ZV77 CI139_HUMAN hypothetical protein LOC401563 71 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) TGTCCTGCCACGCCTGCGGGT 0.657 TUBBP5 643224 broad.mit.edu 37 9 141071110 141071110 + Silent SNP A G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chr9:141071110A>G uc004com.2 + 4 774 c.513A>G c.(511-513)CCA>CCG p.P171P TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TGCGCTTCCCAGGCCAGCTGA 0.597 DACH2 117154 broad.mit.edu 37 X 85403790 85403790 + Missense_Mutation SNP G A A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chrX:85403790G>A uc004eew.2 + 1 336 c.166G>A c.(166-168)GGA>AGA p.G56R DACH2_uc004eex.2_Missense_Mutation_p.G56R|DACH2_uc010nmq.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 56 Poly-Gly. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 CAACAGTGCCGGAGGCGGCGG 0.567 SRPX2 27286 broad.mit.edu 37 X 99925877 99925877 + Missense_Mutation SNP T C C TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chrX:99925877T>C uc004egb.2 + 11 1771 c.1291T>C c.(1291-1293)TAC>CAC p.Y431H NM_014467 NP_055282 O60687 SRPX2_HUMAN sushi-repeat-containing protein, X-linked 2 431 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding ovary(2) 2 CCGAGACCGCTACATGGAACC 0.512 OREG0019890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GPRASP2 114928 broad.mit.edu 37 X 101972268 101972268 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chrX:101972268C>G uc004ejk.2 + 4 3805 c.2471C>G c.(2470-2472)GCC>GGC p.A824G GPRASP2_uc004ejl.2_Missense_Mutation_p.A824G|GPRASP2_uc004ejm.2_Missense_Mutation_p.A824G|GPRASP2_uc011mrp.1_Missense_Mutation_p.A163G NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 824 cytoplasm protein binding ovary(1) 1 CAACTACAAGCCCAAATAGAC 0.403 ZCCHC18 644353 broad.mit.edu 37 X 103359839 103359839 + Missense_Mutation SNP C G G TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx bcca710c-959e-410c-b454-917da7af9bfb 54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89 g.chrX:103359839C>G uc011msh.1 + 3 2353 c.1037C>G c.(1036-1038)ACA>AGA p.T346R MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron NM_001143978 NP_001137450 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 346 nucleic acid binding|zinc ion binding 0 CGAAAATACACAACCCGCTGT 0.483